Pramod Pal

National Institute of Mental Health and Neuro Sciences | NIMHANS · Department of Neurology

Background: Repetitive transcranial magnetic stimulation (rTMS) is applied to the primary motor cortex (M1) for the treatment of different movement disorders like Writer's Cramp (WC), Essential tremor (ET), and Spinocerebellar ataxia (SCA). However, the benefits vary, ranging from no effect to significant improvement in tremor. The variation in the...

Objective: To evaluate oral health - related knowledge, to compare the effectiveness of three different oral health education interventions (OHEI) on plaque removal in a cohort with Parkinson's disease (PD). Method and materials: The three-arm, parallel-group, randomized controlled trial included 63 PD stage 1 and 2 patients aged ≥ 40 years and...

Occasionally, movement disorders can occur following interventional procedures including but not limited to radiotherapy, dental procedures, and cardiac, cerebral and spinal surgeries. The majority of these disorders tend to be unexpected sequelae with variable phenomenology and latency, and they can often be far more disabling than the primary dis...

Tardive dystonia (TD) can be a disabling condition and is usually refractory to medical therapy. Over the past decade, case reports and case series have demonstrated significant benefits of refractory TD with deep brain stimulation (DBS) of the globus pallidus interna (GPi). We present an illustrative case of refractory TD treated with GPi-DBS with...

Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder. In India, an accurate number of PD patients remains uncertain owing to the unawareness of PD symptoms in the geriatric population and the large discrepancy between the number of PD patients and trained neurologists. Constructing additional neurological care centers al...

Objective: To differentiate genetic variants of spinocerebellar ataxia (SCA1 and SCA2) and healthy controls using machine learning on resting-state functional Magnetic Resonance Imaging graph features. Background: SCA is a group of hereditary ataxias and is identified by degeneration in the cerebellum and sometimes in the spinal cord. Early differ...

Objective: To ascertain the role of resting-state functional MRI (rsfMRI)-based modularity in differentiating spinocerebellar ataxia type 1 (SCA1) and spinocerebellar ataxia type 2 (SCA2). Background: Although SCA1 and SCA2 tend to possess certain distinct clinical features, there may be no definite distinctions on imaging, especially in the early...

Objective: To assess the predictive power of Diffusion Kurtosis Imaging (DKI) parameters obtained from Neurite orientation dispersion and density imaging tool (NODDI) to differentiate between Parkinson’s disease (PD) subjects and Healthy Controls (HC). Background: Diffusion indices have been utilized by researchers to check for pathological abnorm...

Introduction: Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage disorder caused by mutations in the NPC 1 or 2 genes. Movement disorders can occur as the first symptom and as predominant symptom mainly in juvenile-onset. The frequency and heterogeneity of movement disorders in NPC are not well described. We st...

Treatable ataxias are a group of ataxic disorders with specific treatments. These disorders include genetic and metabolic disorders, immune-mediated ataxic disorders, and ataxic disorders associated with infectious and parainfectious etiology, vascular causes, toxins and chemicals, and endocrinopathies. This review provides a comprehensive overview...

The respiratory and the nervous systems are closely interconnected and are maintained in a fine balance. Central mechanisms maintain strict control of ventilation due to the high metabolic demands of brain which depends on a continuous supply of oxygenated blood along with glucose. Moreover, brain perfusion is highly sensitive to changes in the par...

Being a large multidomain protein, LRRK2 has several confirmed pathological mutant variants for PD, and the incidence of these variants shows ethnicity biases. I1371V, a mutation in the GTPase domain, has been reported in East-Asian populations, but there are no studies reported on dopaminergic (DA) neurons differentiated from this variant. The aim...

INTRODUCTION: The coronavirus disease-19 (COVID-19) pandemic is a global health crisis that has directly and indirectly impacted almost all populations globally. In this study, we aimed to study the impact of the COVID-19 pandemic on motor and nonmotor symptoms in patients with various movement disorders who visited our outpatient department. MATER...

Background: Emerging evidence supports the view that brain stimulation might improve essential tremor (ET) by altering brain dynamics and facilitating brain plasticity. Yet, we are still missing a mechanistic explanation of the whole brain dynamics underlying these plasticity-defining changes. Method: In this study, we explored the effect of low-fr...

Gastrointestinal (GI) issues are commonly experienced by patients with Parkinson’s disease (PD). Those that affect the lower GI tract, such as constipation, are the most frequently reported GI problems among patients with PD. Upper GI issues, such as swallowing dysfunction (dysphagia) and delayed gastric emptying (gastroparesis), are also common in...

BACKGROUND: Quantitative gait analysis is aimed at quantifying the degree of gait impairment in a patient. It helps to estimate the severity, track the prognosis, and identify the treatment effect in patients. There is a paucity of studies assessing gait characteristics in patients with spinocerebellar ataxia (SCA) using instrumental gait analysis....

Parkinson's disease (PD) is a genetically heterogeneous neurodegenerative disease with poorly defined environmental influences. Genomic studies of PD patients have identified disease‐relevant monogenic genes, rare variants of significance, and polygenic risk‐associated variants. In this study, whole genome sequencing data from 90 young onset Parkin...

Background Long latency reflexes (LLRs) are impaired in a wide array of clinical conditions. We aimed to illustrate the clinical applications and recent advances of LLR in various neurological disorders from a systematic review of published literature. Methods We reviewed the literature using appropriately chosen MeSH terms on the database platfor...

BACKGROUND: There is definite evidence for the involvement of retina in Parkinson's disease (PD). However, a specific pattern has not been clear due to the cross-sectional nature of the majority of the previous studies. OBJECTIVE: The aim of this work was to study the pattern of changes in the retinal layers in patients with PD on longitudinal fol...

Woodhouse‐Sakati syndrome (WSS) is an extremely rare multi‐systemic disorder with neuroendocrine dysfunctions. It is characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability and progressive extrapyramidal syndrome along with radiological features of small pituitary gland, progressive frontoparietal white matter changes an...

Background: Rare movement disorders (RMDs) throw remarkable challenges to their appropriate management particularly when they are medically refractory. We studied the outcome of functional neurosurgery among patients with RMDs. Methods: Retrospective chart-review from 2006 to 2021 of patients with RMDs who underwent either Deep brain Stimulation...

Background: Oculomotor abnormalities are one of the cardinal clinical features of progressive supranuclear palsy (PSP). Vertical saccadic slowing is an early sign of PSP. The association between oculomotor abnormalities and sleep architecture has not been studied so far. Objectives: To study the association of oculomotor abnormalities of PSP wit...

Hyperkinesias are heterogeneous involuntary movements that significantly differ in terms of clinical and semeiological manifestations, including rhythm, regularity, speed, duration, and other factors that determine their appearance or suppression. Hyperkinesias are due to complex, variable, and largely undefined pathophysiological mechanisms that m...

This review is part of the series on the clinical neurophysiology of movement disorders. It focuses on Parkinson’s disease and parkinsonism. The topics covered include the pathophysiology of tremor, rigidity and bradykinesia, balance and gait disturbance and myoclonus in Parkinson’s disease. The use of electroencephalography, electromyography, long...

Background PLA2G6-Associated Neurodegeneration, PLAN, is subdivided into: Infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, and adult-onset dystonia parkinsonism [1]. It is elicited by a biallelic pathogenic variant in phospholipase A2 group VI (PLA2G6) gene. In this study we describe new cases and provide a comprehensive review of p...

Background Psychotic symptoms occur in a majority of schizophrenia patients, and in approximately 50% of all Parkinson’s disease (PD) patients. Altered grey matter (GM) structure within several brain areas and networks may contribute to their pathogenesis. Little, however, is known about transdiagnostic similarities when psychotic symptoms occur in...

Purpose: Psychiatric comorbidity in Parkinson's disease (PD) and atypical parkinsonian syndromes (APS) has been consistently associated with poor outcomes. However, the co-occurrence of multiple psychiatric disorders has been sparsely studied. This study examines the prevalence, patterns, and correlates of psychiatric comorbidity and multimorbidit...

Progressive supranuclear palsy (PSP) is the second most common Parkinsonian disorder with complex etiology. The underlying molecular mechanism of PSP pathogenesis remains unclear. The present study aims to find the feasibility of using plasma miRNAs as novel biomarkers. Plasma-focused qPCR panels were used for microRNA profiling and identified diff...

Background and objectives: Neurocysticercosis (NCC) due to Taenia Solium is a major public health problem. Our objective was to study patients with disseminated cysticercosis (DCC) who had NCC in the brain along with an additional site in the body and assess their clinical, radiological profile, and response to therapy. Materials and methods: A...

Background: Progressive supranuclear palsy (PSP) is a rapidly progressive primary tauopathy characterized by vertical gaze palsy, postural instability, and mild dementia. PSP shows high clinical and pathologic heterogeneity. Although a few risk factors exist, such as advanced age and environmental toxins, the precise etiology remains largely elusiv...

Importance: The Global Burden of Disease study conducted between 1990 and 2016, based on a global study of 195 countries and territories, identified Parkinson disease (PD) as the fastest growing neurological disorder when measured using death and disability. Most people affected by PD live in low- and middle-income countries (LMICs) and experience...

Introduction: Spinocerebellar ataxia type-12 (SCA12) is a rare form of SCA, most commonly reported from the Indian Agarwal and related families. In this study we describe the clinical, genetic, and radiological characteristics of a sizeable cohort of genetically proven SCA12. Methods: A retrospective chart-review of the genetically confirmed SCA...

Objective: This study aims to identify the demographic, clinical, and therapeutic characteristics of four patients with hemimasticatory spasm (HMS) seen in our outpatient department over a period of 20 years. Methods: We performed a retrospective chart review of four patients with HMS who visited outpatient services in the Department of Neurolog...

Objective: With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES) in dystonia and factors suggestive of a genetic etiology. Methods: This study was a retrospective chart review of patients with dysto...

Background : ChAdOx1-S (Covishield™/Vaxzervria, AstraZeneca) and BBV152 (Covaxin) SARS-CoV-2 vaccines are proven to be safe and effective, but rare complications have been reported. Objective : To describe reports of central nervous system (CNS) demyelination following ChAdOx1-S and BBV152 vaccinations. Methods & Results : We report 29 (17 female...

BACKGROUND: A multimodal connectomic analysis using diffusion and functional MRI can provide complementary information on the structure–function network dynamics involved in complex neurodegenerative network disorders such as Parkinson’s disease (PD). Deep learning-based graph neural network models generate higher-level embeddings that could captur...

Charcot-Marie-Tooth disease, type 4D (CMT4D) is a progressive, autosomal recessive form of CMT, characterized by distal muscle weakness and atrophy, foot deformities, severe motor sensory neuropathy, and sensorineural hearing impairment. Mutations in NDRG1 gene cause neuropathy in humans, dogs, and rodents. Here, we describe clinical and genetic fe...

This study describes the generation and characterization of 3 induced pluripotent stem cell lines (iPSCs) generated by somatic reprogramming of peripheral blood mononuclear cells (PBMCs) obtained from healthy individuals. The reprogramming was carried out using non-integrating Sendai virus vectors expressing hKOS, hc-myc and hKlf4. The donors did n...

Objective Cognition has been reported to be involved in patients with multiple system atrophy (MSA), although initially it was considered an exclusion in the diagnosis of MSA. We assessed cognition in these patients and compared it with age and education matched healthy controls and correlated with the gray matter volume using voxel-based morphomet...

Cognitive impairment of different severity with eventual progression to dementia in Parkinson’s disease (PD) appears during the course of the disease. In this study, transcranial magnetic stimulation (TMS) was used to assess cortical excitability changes in PD patients with varying cognitive impairment. We aimed to identify the TMS parameters that...

This chapter reviews the alterations in motor learning and motor cortical plasticity in Parkinson's disease (PD), the most common movement disorder. Impairments in motor learning, which is a hallmark of basal ganglia disorders, influence the performance of motor learning-related behavioral tasks and have clinical implications for the management of...

Background: Progressive supranuclear palsy [PSP] is a neurodegenerative condition with characteristic clinical and imaging features. Aim: This is an exploratory MRS study to look at metabolic changes that occur due to the disease by using MR spectroscopic methods in subtypes of the PSP, that is, classic [PSP-c] and Parkinsonian [PSP-p]. Materia...

INTRODUCTION: Dystonia is one of the most common hyperkinetic movement disorders observed in children with neurological disorders. The objective of this study was to evaluate the demographic, etiological, and radiological profile of childhood dystonia.

Functional movement disorders (FMDs) are a heterogenous group of movement abnormalities that greatly affect the quality of life of patients. They usually manifest as a result of underlying psychological or psychiatric illnesses without any known structural or neurochemical diseases. Various neurological disorders such as encephalitis, stroke, demye...

INTRODUCTION: Psychosis is one of the incapacitating non-motor symptoms of Parkinson’s disease (PD). Although several risk factors that include older age, rapid eye movement sleep (REM) behavior disorder (RBD), depression, and cognitive dysfunction have been identified, the exact neural correlates remain elusive. As cognitive impairment has a close...

Background Huntington’s disease (HD) is a progressive neurodegenerative disorder characterised by chorea, cognitive impairment, psychiatric and behavioral disturbances. Sleep disturbances including reduced REM sleep have been observed in HD. Objectives The aim of the study was to study the polysomnography findings in HD and to assess whether oculo...

Introduction We aimed to study the cortical and intracortical functions in patients of ET using transcranial magnetic stimulation (TMS) and to evaluate the effect of continuous theta burst stimulation (cTBS) on the tremor characteristics. Methods Ten ET and 20 healthy controls were included in the study. All the participants were evaluated with TM...

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Objective: Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS. Methods: This was a retrospective chart review of patients with JS evaluated by movement disorder specialists. Results:...

Background: Rapid eye movement sleep behaviour disorder (RBD) is considered to be one of the most frequent and important prodromal symptoms of Parkinson’s disease (PD). We aimed to study the neurophysiological abnormalities in patients of PD-RBD and PD without RBD (PD-nRBD) using transcranial magnetic stimulation (TMS). Methods: Twenty patients ea...

Background: Patients with Parkinson's disease (PD) commonly use complementary and alternative medications. Yoga is a mind-body intervention that is being increasingly explored as a tool in the therapeutic armamentarium of PD. Objective: To critically evaluate the studies and summarize the utility of Yoga in PD. Material and methods: We perform...

Objective: Voice tremor (VT) is one of the characteristics of essential tremor (ET). This study was designed to describe the group and phonatory characteristics of classic ET patients with VT. Methods: This retrospective case-control study compared classic ET patients with age and sex-matched controls. The ET population was subgrouped based on a...

Background: Non-ataxic manifestations in autosomal dominant cerebellar ataxias are variable and influenced by CAG repeat length and age at onset. This report describes a genetically proven SCA2 kindred with an atypical phenotype resembling SCA3. Case report: The phenotype of five genetically proven patients with SCA2 in this report differed from...

The brain has the innate ability to undergo neuronal plasticity, which refers to changes in its structure and functions in response to continued changes in the environment. Although these concepts are well established in animal slice preparation models, their application to a large number of human subjects could only be achieved using noninvasive b...

Background: Parkinsonism following viral encephalitis is well reported. However, in addition, to parkinsonism other movement disorders such as dystonia, chorea, myoclonus may also be observed in these patients. Stereotypy is a very rare manifestation following viral encephalitis. Case report: Here we report a rare case of a 25-year-old young man...

Synaptic nuclear envelope protein-1 (SYNE1) related cerebellar ataxia also called ARCA1 or SCAR8, manifests as a relatively pure cerebellar ataxia or with additional neurological involvement. Dystonia is rarely seen in SYNE1 ataxia and to the best of our knowledge, there are only three reports of dystonia in patients with SYNE1 ataxia. This report...

IntroductionThe non-motor symptoms in Primary Cervical dystonia (CD) include sleep disturbances. The objective was to study the sleep disturbances and polysomnographic characteristics in patients with CD.Materials and methodsThe study was conducted at the department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS) hospi...

Objectives This study aimed to explore the feasibility of radiomics features extracted from T1-weighted MRI images to differentiate Parkinson’s disease (PD) from atypical parkinsonian syndromes (APS).Methods Radiomics features were computed from T1 images of 65 patients with PD, 61 patients with APS (31: progressive supranuclear palsy and 30: multi...

Background: Osmotic demyelination syndrome (ODS) can be a central pontine myelinolysis (CPM) and extrapontine myelinolysis (EPM) based on the regions involved even though they share the same disease process, aetiopathogenesis and time course. Objectives: Present study aims to characterize the clinical, radiological features and the outcome of pa...

Objective: There is limited literature on the knowledge, attitude, and perceptions (KAP) of botulinum toxin (BoNT) treatment among patients and caregivers. The objective of this study was to assess the KAP in patients undergoing BoNT treatment for movement disorders. Methods: One hundred patients with movement disorders from National Institute o...

INTRODUCTION: Numerous studies in Huntington’s disease (HD) have shown striatum as the major site of neuronal loss, but recently the presence of neurodegeneration in other regions of the brain is gaining attention. In our study, we used voxel-based morphometry and diffusion tensor imaging to identify other areas in the brain that are involved in th...